Abstract:
:Uniparental disomy (UPD) is defined as the presence of a chromosome pair that derives from only one parent in a diploid individual. The human TRKA gene on chromosome 1q21-q22 encodes a receptor tyrosine kinase for nerve growth factor and is responsible for an autosomal recessive genetic disorder: congenital insensitivity to pain with anhidrosis (CIPA). We report here the second case of paternal UPD for chromosome 1 in a male patient with CIPA who developed normally at term and did not show overt dysmorphisms or malformations. He had only the usual features of CIPA with a homozygous mutation at the TRKA locus and a normal karyotype with no visible deletions or evidence of monosomy 1. Haplotype analysis of the TRKA locus and allelotype analyses of whole chromosome 1 revealed that the chromosome pair was exclusively derived from his father. Non-maternity was excluded by analyses of autosomes other than chromosome 1. Thus, we have identified a complete paternal isodisomy for chromosome 1 as the cause of reduction to homozygosity of the TRKA gene mutation, leading to CIPA. Our findings further support the idea that there are no paternally imprinted genes on chromosome 1 with a major effect on phenotype. UPD must be considered as a rare but possible cause of autosomal recessive disorders when conducting genetic testing.
journal_name
Hum Genetjournal_title
Human geneticsauthors
Miura Y,Hiura M,Torigoe K,Numata O,Kuwahara A,Matsunaga M,Hasegawa S,Boku N,Ino H,Mardy S,Endo F,Matsuda I,Indo Ydoi
10.1007/s004390000369keywords:
subject
Has Abstractpub_date
2000-09-01 00:00:00pages
205-9issue
3eissn
0340-6717issn
1432-1203journal_volume
107pub_type
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